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Leukodystrophy, adult onset v7.7 ATN1_CAG Ida Ertmanska Tag Q3_26_NHS_review tag was added to STR: ATN1_CAG.
Tag Q3_26_promote_green tag was added to STR: ATN1_CAG.
Leukodystrophy, adult onset v7.7 ATN1_CAG Ida Ertmanska Phenotypes for STR: ATN1_CAG were changed from to Dentatorubral-pallidoluysian atrophy, OMIM:125370; dentatorubral-pallidoluysian atrophy, MONDO:0007435
Leukodystrophy, adult onset v7.6 ATN1_CAG Ida Ertmanska Publications for STR: ATN1_CAG were set to
Leukodystrophy, adult onset v7.5 ATN1_CAG Ida Ertmanska Classified STR: ATN1_CAG as Amber List (moderate evidence)
Leukodystrophy, adult onset v7.5 ATN1_CAG Ida Ertmanska Added comment: Comment on list classification: As reviewed by Luke Stuart, there are numerous individuals reported in literature with ATN1 CAG repeats and adult-onset Dentatorubral-Pallidoluysian Atrophy, which entails widespread white matter atrophy. Hence, this STR should be promoted to Green on Adult onset leukodystrophy.
Leukodystrophy, adult onset v7.5 ATN1_CAG Ida Ertmanska Str: atn1_cag has been classified as Amber List (Moderate Evidence).
Leukodystrophy, adult onset v7.4 ATN1_CAG Luke Stuart reviewed STR: ATN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8586978, 8370212, 1837247, 9409354, 40298952, 15210537, 8167052; Phenotypes: Dentatorubral-pallidoluysian atrophy, 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy, adult onset v7.4 ATN1_CAG Eleanor Williams ATN1 was changed to ATN1_CAG
Source NHS GMS was removed from STR: ATN1_CAG.
Source Literature was added to STR: ATN1_CAG.
Tag STR was added to STR: ATN1_CAG.